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This gene encodes a protein required for autophagy. The encoded protein is involved in autophagosome formation. A germline duplication of a region that includes this gene is associated with predisposition to myeloid malignancies. [provided by RefSeq, Jul 2016]
ATG2B (Autophagy Related 2B) is a Protein Coding gene. Among its related pathways are Pathways of neurodegeneration - multiple diseases and Autophagy Pathway. An important paralog of this gene is ATG2A.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0032266 | phosphatidylinositol-3-phosphate binding | IBA | 21873635 |
GO:0120013 | intermembrane lipid transfer activity | IDA | 31721365 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000407 | phagophore assembly site | IBA | 21873635 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005789 | endoplasmic reticulum membrane | IEA | -- |
GO:0005811 | lipid droplet | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Pathways of neurodegeneration - multiple diseases | ||
2 | Autophagy - animal | ||
3 | Macroautophagy | ||
4 | Spinocerebellar ataxia | ||
5 | Autophagy Pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000045 | autophagosome assembly | IBA | 21873635 |
GO:0000422 | autophagy of mitochondrion | IBA | 21873635 |
GO:0006914 | autophagy | IEA | -- |
GO:0034727 | piecemeal microautophagy of the nucleus | IBA | 21873635 |
GO:0044805 | late nucleophagy | IBA | 21873635 |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ATG2B 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ATG2B 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ATG2B 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ATG2B 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ATG2B 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Atg2b 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ATG2B 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ATG2B 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | atg2b 30 |
|
||
Str.8303 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | ATG2B 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004092 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Atg2 30 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | atg-2 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ATG2 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.1201 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 14 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs114955360 | Benign: not provided | 96,303,229(-) |
C/T NM_018036.7(ATG2B):c.4869G>A (p.Pro1623=) |
SYNONYMOUS | |
rs116026484 | Benign: not provided | 96,317,747(-) |
A/G NM_018036.7(ATG2B):c.2988T>C (p.Asn996=) |
SYNONYMOUS | |
rs117507139 | Benign: not provided | 96,332,503(-) |
C/T NM_018036.7(ATG2B):c.1360G>A (p.Val454Met) |
MISSENSE | |
rs142484701 | Benign: not provided | 96,332,343(-) |
G/A NM_018036.7(ATG2B):c.1430C>T (p.Pro477Leu) |
MISSENSE | |
rs150538996 | Benign: not provided | 96,301,998(-) |
G/A NM_018036.7(ATG2B):c.5139+9C>T |
INTRON |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3635420 | CNV | gain | 21293372 |
No disorders were found for ATG2B Gene.